ArticleHuman mutation2012
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 70 citations in OpenAlex.
- Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.Journal of human genetics · 2026Article
- Cardiac dysfunction related to cardiac mRNA and protein traffic impairment due to reduced unconventional motor protein myosin-5b expression.European heart journal · 2025Article
- Global Air Pollutant Phenanthrene and Arrhythmic Outcomes in a Mouse Model.Environmental health perspectives · 2023Article
- An E280K Missense Variant inInternational journal of molecular sciences · 2023Article
- Human atrial fibrillation and genetic defects in transient outward currents: mechanistic insights from multi-scale computational models.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Article
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- Review
- Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic forCirculation. Genomic and precision medicine · 2022Article
- Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.Frontiers in molecular neuroscience · 2022Article
- Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.Clinical and translational medicine · 2021Review
- Rare Gain-of-FunctionInternational journal of molecular sciences · 2021Article
- Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.International journal of molecular sciences · 2021Review
- V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.Neurology. Genetics · 2021Article
- Brugada syndrome: A comprehensive review of pathophysiological mechanisms and risk stratification strategies.International journal of cardiology. Heart & vasculature · 2020Review
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.Cerebellum (London, England) · 2018Article
- A novelOncotarget · 2017Article
- Sudden infant death syndrome and inherited cardiac conditions.Nature reviews. Cardiology · 2017Review
- Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Pacing and clinical electrophysiology : PACE · 2017Article
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- Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Heritable arrhythmia syndromes, including Brugada syndrome (BrS) and idiopathic ventricular fibrillation (IVF), may serve as the pathogenic basis for autopsy-negative sudden unexplained death (SUD) and sudden infant death syndrome (SIDS). Emerging evidence has linked perturbations in the transient outward current (I(to) ) conducted by the KCND3-encoded Kv4.3 pore-forming α-subunit to BrS or IVF. However, the contribution of KCND3 mutations to autopsy-negative SUD/SIDS is unknown. To investigate the potential association between KCND3 and SUD/SIDS, mutational analysis of KCND3 was conducted in 123 SUDS and 292 SIDS victims using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct sequencing. Overall, one SIDS case (<1.0%) and two SUDS cases (1.6%) harbored potentially pathogenic mutations in KCND3. The novel p.Val392Ile, p.Ser530Pro, and p.Gly600Arg mutations involved highly conserved residues and were absent in 1,560 reference alleles. Although the SIDS-associated p.Ser530Pro mutation demonstrated a wild-type (WT) electrophysiological phenotype when heterologously expressed, the SUDS-associated p.Val392Ile and p.Gly600Arg mutations significantly increased peak current density at +40 mV in comparison with WT by 100.4% (P < 0.05) and 50.4% (P < 0.05), respectively. p.Val392Ile also slowed recovery from inactivation 3.6-fold, indicating a mixed electrophysiological phenotype. This is the first report indicating that KCND3 may serve as a rare genetic substrate in the pathogenesis of SUDS but not SIDS cases.
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Registered trials
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